Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type

Ophthalmology

Volumn 121, Issue 1, 2014, Pages 381-386

  Gizicki, Robert ^a   Robert, Marie Claude ^a   Gómez López, Lilianne ^b   Orquin, Jaqueline ^a   Decarie, Jean Claude ^a   Mitchell, Grant A ^a,b   Roy, Marie Sylvie ^a   Ospina, Luis H ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE STUDY; CHILD; CLINICAL ARTICLE; COBALAMIN C DISEASE; CORPUS CALLOSUM; DARK ADAPTATION; ELECTRORETINOGRAM; ELECTRORETINOGRAPHY; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE; HOMOCYSTINURIA; HUMAN; INFANT; LONG TERM CARE; MALE; METHYLMALONIC ACIDURIA; NEUROIMAGING; NYSTAGMUS; OPHTHALMOSCOPY; OPTIC NERVE ATROPHY; OUTCOME ASSESSMENT; PHENOTYPE; PHOTOPIC VISION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA MACULOPATHY; RETINOPATHY; RETROSPECTIVE STUDY; STRABISMUS; VISION; VISUAL ACUITY; WHITE MATTER INJURY;

ADOLESCENT; AMINO ACID METABOLISM, INBORN ERRORS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 1; COLOR VISION; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HOMOCYSTINURIA; HUMANS; MALE; MUTATION; NIGHT VISION; NYSTAGMUS, PATHOLOGIC; OPTIC ATROPHY; RETINAL DISEASES; RETROSPECTIVE STUDIES; STRABISMUS; VISION DISORDERS; VISUAL ACUITY; YOUNG ADULT;

EID: 84891625040     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.08.034     Document Type: Article

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